Genome-Wide Association Study of AgeRelated Macular Degeneration Reveals 2 New Loci Implying Shared Genetic Components with Central Serous Chorioretinopathy

Ophthalmology 2023;130:361-372 2022 by the American Academy of Ophthalmology

中文摘要

這篇論文描述了在日本人中進行的年齡相關性黃斑部退化（AMD）的基因組關聯研究。通過對兩個獨立的genome-wide association studies (GWAS)進行meta-analysis，確定了6個與AMD顯著相關的基因座(loci)，發現了兩個新的基因座（(rs4147157 near WBP1L and rs76228488 near GATA5)與AMD的關聯。此外，通過基因相關性分析，作者們發現了AMD與戒煙有關的多基因結構，意味著AMD和中心性漿液性脈络膜病（central serous chorioretinopathy）可能具有共享的遺傳。作者們的研究提供了有關AMD基因組學和各種流行病學風險因素之間相互作用的更深入的理解。

English Abstract

The study investigated the genetic architecture of age-related macular degeneration (AMD) in a Japanese population through a meta-analysis of two independent genome-wide association studies (GWASs), identifying six loci significantly associated with AMD. The study also found two new loci that were associated with AMD, indicating shared genetic components with central serous chorioretinopathy. Additionally, the study conducted a genetic correlation analysis that implicated a polygenic architecture shared between AMD and smoking cessation. The findings imply that some AMD heritability can be explained by genetic components that affect Japanese lifestyles.